ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Spondyloepimetaphyseal dysplasia, Missouri type

Legg-CalvÃ©-Perthes disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MMP13	(0.52)	COL2A1

Citations in the biomedical literature:

Spondyloepimetaphyseal dysplasia, Missouri type		Legg-CalvÃ©-Perthes disease
	Synonym(s): - SEMD type 2 - SEMD, Missouri type - Spondyloepimetaphyseal dysplasia type 2		Synonym(s): - Aseptic necrosis of the capital femoral epiphysis - Osteochondritis of the capital femoral epiphysis - Osteochondrosis of the capital femoral epiphysis - Perthes disease

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Short stature / dwarfism / nanism

Spondyloepimetaphyseal dysplasia, Missouri type		Legg-CalvÃ©-Perthes disease
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Metaphyseal anomaly Frequent - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Osteoarthritis - Rhizomelic micromelia Occasional - Restricted joint mobility / joint stiffness / ankylosis		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Articular / joint pain / arthralgia - Cartilage destruction / chondrolysis - Delayed bone age - Joint / articular deformation - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Osteonecrosis / bone infarction - Polygenic / multifactorial inheritance